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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Adrenal Insufficiency
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Accession:DOID:9008622 term browser browse the term
Definition:Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS.
Synonyms:exact_synonym: Adrenal Gland Hypofunction;   Adrenal Insufficiencies;   Hypoadrenalism
 narrow_synonym: ADRENAL INSUFFICIENCY, NR5A1-RELATED
 primary_id: MESH:D000309;   RDO:0000918


show annotations for term's descendants           Sort by:
Adrenal Insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2-associated X protein ISO associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal cortex RGD PMID:21161352 RGD:6482719 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex RGD PMID:21161352 RGD:6482719 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr 9:57,905,307...57,934,314
Ensembl chr 9:57,913,694...57,934,306 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369247 NCBI chr 2:38,582,668...38,604,554
Ensembl chr 2:38,582,668...38,604,554 		JBrowse link
G Pla2g2a phospholipase A2, group IIA (platelets, synovial fluid) ISO associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal gland RGD PMID:21161352 RGD:6482719 NCBI chr 4:138,559,168...138,562,500
Ensembl chr 4:138,559,171...138,562,497 		JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO RGD PMID:11874690 RGD:1357926 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
G Scnn1b sodium channel, nonvoltage-gated 1 beta ISO Liddle syndrome, OMIM:177200;DNA:point mutation:exon:R564X RGD PMID:7954808 RGD:1624136 NCBI chr 7:121,464,261...121,517,951
Ensembl chr 7:121,464,261...121,517,737 		JBrowse link
G Tbx19 T-box 19 ISO ClinVar Annotator: match by term: Adrenal insufficiency ClinVar NCBI chr 1:164,965,403...164,988,342
Ensembl chr 1:164,965,424...164,988,342 		JBrowse link
Addison's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP-binding cassette, sub-family D member 1 ISO ClinVar Annotator: match by term: Primary adrenocortical insufficiency ClinVar PMID:7581394 PMID:7668254 PMID:8040304 PMID:8651290 PMID:8773611 More... NCBI chr  X:72,760,203...72,782,140
Ensembl chr  X:72,760,203...72,782,140 		JBrowse link
G Ciita class II transactivator ISO DNA:polymorphism:intron:rs8048002T>C (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18593762 PMID:18593762 RGD:5491177 NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282 		JBrowse link
G Clec16a C-type lectin domain family 16, member A ISO DNA:polymorphism:intron:rs12917716C (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18593762 PMID:18593762 RGD:5491177 NCBI chr16:10,363,173...10,562,742
Ensembl chr16:10,363,203...10,562,742 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphism (human)
DNA:repeat (human)		 RGD PMID:20455895 PMID:12072047 RGD:5147608, RGD:5147829 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO DNA:polymorphisms (human)
DNA:polymorphism (human)		 RGD PMID:21816777 PMID:19858318 RGD:5147553, RGD:5147588 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) ISO DNA: snp: cds: rs2476601 RGD PMID:18301444 RGD:6484549 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinal pigment epithelium 65 ISO ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 More... NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		JBrowse link
G Tbx19 T-box 19 ISO
IAGP		 ClinVar Annotator: match by term: ACTH deficiency | ClinVar Annotator: match by term: TBX19-related condition
OMIM:201400
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 More... NCBI chr 1:164,965,403...164,988,342
Ensembl chr 1:164,965,424...164,988,342 		JBrowse link
adrenoleukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP-binding cassette, sub-family D member 1 susceptibility ISO
IAGP		 ClinVar Annotator: match by term: ABCD1-related condition | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy
OMIM:202370 | OMIM:300100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chr  X:72,760,203...72,782,140
Ensembl chr  X:72,760,203...72,782,140 		JBrowse link
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr 9:54,512,163...54,569,169
Ensembl chr 9:54,512,161...54,569,154 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:72,937,958...72,954,945
Ensembl chr  X:72,935,048...72,965,476 		JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611 		JBrowse link
G Atp6ap1 ATPase, H+ transporting, lysosomal accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,340,753...73,348,297
Ensembl chr  X:73,340,703...73,348,327 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:72,935,371...72,938,034
Ensembl chr  X:72,935,708...72,939,108 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:72,729,784...72,761,464
Ensembl chr  X:72,729,784...72,759,781 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,527,207...72,539,542
Ensembl chr  X:72,527,208...72,539,539 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex, subunit 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,460,234...74,499,307
Ensembl chr  X:74,460,234...74,497,607 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr11:78,641,332...78,642,555
Ensembl chr11:78,641,332...78,642,555 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,448,452...74,460,190
Ensembl chr  X:74,448,452...74,460,190 		JBrowse link
G Ctag2l2 CTAG2 like 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,784,533...73,785,794
Ensembl chr  X:73,784,533...73,785,794 		JBrowse link
G Dkc1 dyskeratosis congenita 1, dyskerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,316,823...73,325,939
Ensembl chr  X:73,316,823...73,325,943 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,682,995...72,687,120
Ensembl chr  X:72,683,025...72,687,120 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,298,297...73,305,188
Ensembl chr  X:73,298,293...73,305,154 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G F8a factor 8-associated gene A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,271,912...72,274,401
Ensembl chr  X:72,271,897...72,274,401 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,427,816...73,436,856
Ensembl chr  X:73,428,325...73,436,878 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,356,589...73,363,761
Ensembl chr  X:73,356,639...73,363,755 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,426,005...74,440,764
Ensembl chr  X:74,426,005...74,440,065 		JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Gab3 growth factor receptor bound protein 2-associated protein 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:74,032,151...74,128,511
Ensembl chr  X:74,010,449...74,129,064 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,348,618...73,355,473
Ensembl chr  X:73,348,604...73,355,468 		JBrowse link
G H2ab2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:115,590,875...115,591,222
Ensembl chr  X:115,590,875...115,591,222 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:119,222,279...119,222,923
Ensembl chr  X:119,222,445...119,222,792 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,480,921...72,502,635
Ensembl chr  X:72,480,921...72,502,650 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:72,986,400...73,011,430
Ensembl chr  X:72,986,398...73,009,963 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Idh3g isocitrate dehydrogenase 3 (NAD+), gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:72,822,569...72,830,471
Ensembl chr  X:72,822,569...72,830,503 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,057,520...73,067,527
Ensembl chr  X:73,057,520...73,067,524 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224 		JBrowse link
G Magea5 MAGE family member A5 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,836,057...153,846,147
Ensembl chr  X:153,836,057...153,846,141 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G Mmp10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 9:7,502,343...7,510,243
Ensembl chr 9:7,502,353...7,510,241 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mpp1 membrane protein, palmitoylated ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,153,339...74,174,622
Ensembl chr  X:74,153,339...74,174,622 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,454,048...74,460,190
Ensembl chr  X:74,454,050...74,460,194 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:72,960,476...72,965,550
Ensembl chr  X:72,960,479...72,965,550 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120 		JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:72,836,963...72,868,649
Ensembl chr  X:72,836,965...72,868,575 		JBrowse link
G Pex13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr11:23,597,283...23,615,883
Ensembl chr11:23,596,479...23,615,959 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12851857 NCBI chr 6:121,160,176...121,175,796
Ensembl chr 6:121,160,626...121,175,796 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,372,644...73,388,295
Ensembl chr  X:73,372,672...73,388,295 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:72,800,564...72,816,116
Ensembl chr  X:72,800,696...72,816,120 		JBrowse link
G Pnck pregnancy upregulated non-ubiquitously expressed CaM kinase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,699,598...72,703,723
Ensembl chr  X:72,699,600...72,703,723 		JBrowse link
G Pnma3 paraneoplastic antigen MA3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,108,393...72,111,797
Ensembl chr  X:72,108,393...72,111,797 		JBrowse link
G Pnma5 paraneoplastic antigen family 5 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,077,587...72,083,315
Ensembl chr  X:72,077,587...72,080,709 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,438,793...72,442,418
Ensembl chr  X:72,440,045...72,442,342 		JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,615,651...74,621,837
Ensembl chr  X:74,615,652...74,621,837 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:72,965,727...72,974,408
Ensembl chr  X:72,965,727...72,974,456 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,314,463...73,316,741
Ensembl chr  X:73,314,418...73,316,741 		JBrowse link
G Slc10a3 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,412,823...73,416,955
Ensembl chr  X:73,412,823...73,416,955 		JBrowse link
G Slc6a8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:72,716,739...72,726,108
Ensembl chr  X:72,716,756...72,726,108 		JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,189,663...74,207,362
Ensembl chr  X:74,189,662...74,207,376 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Srpk3 serine/arginine-rich protein specific kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:72,818,011...72,822,531
Ensembl chr  X:72,818,011...72,822,531 		JBrowse link
G Ssr4 signal sequence receptor, delta ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:72,830,778...72,834,432
Ensembl chr  X:72,830,634...72,834,436 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,325,498...73,340,182
Ensembl chr  X:73,325,518...73,333,757 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,194,515...73,211,444
Ensembl chr  X:73,194,550...73,211,444 		JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr  X:20,736,524...20,740,972
Ensembl chr  X:20,736,405...20,740,974 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,220,865...73,252,104
Ensembl chr  X:73,220,865...73,252,106 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,477,311...72,478,949
Ensembl chr  X:72,477,311...72,478,950 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:73,409,324...73,412,154
Ensembl chr  X:73,409,324...73,416,824 		JBrowse link
G Vbp1 von Hippel-Lindau binding protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,557,903...74,578,552
Ensembl chr  X:74,557,905...74,578,548 		JBrowse link
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,030,860...72,075,149
Ensembl chr  X:72,030,945...72,075,149 		JBrowse link
G Zfp92 zinc finger protein 92 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,454,555...72,473,980
Ensembl chr  X:72,454,702...72,471,991 		JBrowse link
congenital adrenal insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: CYP11A1-related condition | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 More... NCBI chr 9:57,905,307...57,934,314
Ensembl chr 9:57,913,694...57,934,306 		JBrowse link
G LOC108964935 Cyp11a1 promoter region ISO ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete ClinVar NCBI chr 9:57,920,819...57,922,307 JBrowse link
corticosterone methyloxidase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency | ClinVar Annotator: match by term: Corticosterone 18-monooxygenase deficiency | ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency | ClinVar Annotator: match by term: Early-onset familial hypoaldosteronism | ClinVar Annotator: match by term: Familial hypoaldosteronism | ClinVar Annotator: match by term: STEROID 18-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: STEROID 18-OXIDASE DEFICIENCY		 CTD
OMIM
ClinVar		 PMID:1346492 PMID:1594605 PMID:2044581 PMID:7485152 PMID:7792802 More... NCBI chr15:74,722,467...74,728,080
Ensembl chr15:74,722,467...74,728,167 		JBrowse link
G LOC110673973 Cyp11b2 promoter ISO ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency ClinVar NCBI chr15:74,728,086...74,728,514 JBrowse link
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO ClinVar Annotator: match by term: CMO II DEFICIENCY | ClinVar Annotator: match by term: CYP11B2-related disorder ClinVar
OMIM		 PMID:1594605 PMID:2044581 PMID:8530633 PMID:8954040 PMID:9360501 More... NCBI chr15:74,722,467...74,728,080
Ensembl chr15:74,722,467...74,728,167 		JBrowse link
G LOC110673973 Cyp11b2 promoter ISO ClinVar Annotator: match by term: CMO II DEFICIENCY ClinVar NCBI chr15:74,728,086...74,728,514 JBrowse link
glucocorticoid deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mc2r melanocortin 2 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACTH resistance | ClinVar Annotator: match by term: Glucocorticoid deficiency 1		 OMIM
CTD
ClinVar		 PMID:7829641 PMID:8069303 PMID:8094489 PMID:8227361 PMID:8250922 More... NCBI chr18:68,539,970...68,562,391
Ensembl chr18:68,539,978...68,562,391 		JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 1 ClinVar PMID:15654338 PMID:24033266 PMID:25741868 NCBI chr16:90,535,095...90,546,673
Ensembl chr16:90,535,095...90,546,673 		JBrowse link
G Nnt nicotinamide nucleotide transhydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22634753 NCBI chr13:119,472,063...119,545,793
Ensembl chr13:119,471,984...119,545,533
Ensembl chr13:119,471,984...119,545,533 		JBrowse link
Glucocorticoid Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrap melanocortin 2 receptor accessory protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition		 OMIM
CTD
ClinVar		 PMID:15654338 PMID:16868047 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:90,535,095...90,546,673
Ensembl chr16:90,535,095...90,546,673 		JBrowse link
G Urb1 URB1 ribosome biogenesis 1 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr16:90,548,415...90,607,312
Ensembl chr16:90,548,415...90,607,301 		JBrowse link
Glucocorticoid Deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nnt nicotinamide nucleotide transhydrogenase ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 4 | ClinVar Annotator: match by term: NNT-related condition OMIM
ClinVar		 PMID:22634753 PMID:23474776 PMID:25741868 PMID:26070314 PMID:26548497 More... NCBI chr13:119,472,063...119,545,793
Ensembl chr13:119,471,984...119,545,533
Ensembl chr13:119,471,984...119,545,533 		JBrowse link
Glucocorticoid Deficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 5 | ClinVar Annotator: match by term: TXNRD2-related condition OMIM
ClinVar		 PMID:16199547 PMID:21247928 PMID:24601690 PMID:25741868 PMID:26300845 More... NCBI chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823 		JBrowse link
Hypoaldosteronism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO CMO II deficiency, OMIM:610600; protein:missense mutations:cds:p.R181W, p.V386A (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11238478 PMID:1594605 RGD:1600824 NCBI chr15:74,722,467...74,728,080
Ensembl chr15:74,722,467...74,728,167 		JBrowse link
G Rhcg Rhesus blood group-associated C glycoprotein treatment ISO RGD PMID:21415155 RGD:9850160 NCBI chr 7:79,243,111...79,267,405
Ensembl chr 7:79,243,111...79,267,405 		JBrowse link
IMAGe syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1c cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 More... NCBI chr 7:143,012,076...143,014,735
Ensembl chr 7:143,012,076...143,014,787 		JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-Coenzyme A oxidase 1, palmitoyl ISO
IAGP		 ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: ACOX1-related disorder | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
CTD Direct Evidence: marker/mechanism
OMIM:264470		 OMIM
ClinVar
CTD
MouseDO		 PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More... NCBI chr11:116,062,714...116,089,605
Ensembl chr11:116,062,714...116,089,871 		JBrowse link
G Fbf1 Fas binding factor 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr11:116,033,111...116,059,097
Ensembl chr11:116,033,111...116,058,992 		JBrowse link
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr11:115,899,183...115,903,545
Ensembl chr11:115,899,283...115,903,545 		JBrowse link
G H3f3b H3.3 histone B ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr11:115,912,787...115,921,313
Ensembl chr11:115,912,738...115,918,788 		JBrowse link
G Itgb4 integrin beta 4 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238 		JBrowse link
G Mrpl38 mitochondrial ribosomal protein L38 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr11:116,022,643...116,029,694
Ensembl chr11:116,022,643...116,029,694 		JBrowse link
G Ten1 TEN1 telomerase capping complex subunit ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:8040306 PMID:17458872 PMID:25741868 PMID:28492532 NCBI chr11:116,089,681...116,106,144
Ensembl chr11:116,089,681...116,106,144 		JBrowse link
G Trim47 tripartite motif-containing 47 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr11:115,996,576...116,001,061
Ensembl chr11:115,996,578...116,018,036 		JBrowse link
G Trim65 tripartite motif-containing 65 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr11:116,008,015...116,022,239
Ensembl chr11:116,012,672...116,021,954 		JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr11:115,952,921...115,969,321
Ensembl chr11:115,952,921...115,968,787 		JBrowse link
G Unk unkempt family zinc finger ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr11:115,921,117...115,952,040
Ensembl chr11:115,921,148...115,952,040 		JBrowse link
G Wbp2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr11:115,969,397...115,977,821
Ensembl chr11:115,969,399...115,977,821 		JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP-binding cassette, sub-family D member 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:25741868 NCBI chr  X:72,760,203...72,782,140
Ensembl chr  X:72,760,203...72,782,140 		JBrowse link
G Acrbp proacrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,026,890...125,040,228
Ensembl chr 6:125,026,652...125,040,230 		JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 7:119,289,249...119,313,789
Ensembl chr 7:119,289,249...119,313,788 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:122,554,755...122,580,068
Ensembl chr 6:122,554,751...122,579,403 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,719,507...124,733,450
Ensembl chr 6:124,719,507...124,733,487
Ensembl chr 6:124,719,507...124,733,487 		JBrowse link
G C1rb complement component 1, r subcomponent B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130 		JBrowse link
G C1rl complement component 1, r subcomponent-like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:124,470,072...124,487,602
Ensembl chr 6:124,470,072...124,487,602 		JBrowse link
G C1s1 complement component 1, s subcomponent 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:124,507,303...124,519,340
Ensembl chr 6:124,507,304...124,519,318 		JBrowse link
G C3ar1 complement component 3a receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:122,824,099...122,833,116
Ensembl chr 6:122,824,097...122,833,120 		JBrowse link
G Cd163 CD163 antigen ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486 		JBrowse link
G Cd27 CD27 antigen ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,209,583...125,214,014
Ensembl chr 6:125,209,585...125,213,973 		JBrowse link
G Cd4 CD4 antigen ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,841,656...124,865,210
Ensembl chr 6:124,841,655...124,865,184 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,806,533...124,810,664
Ensembl chr 6:124,806,510...124,810,664 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,073,144...125,107,554
Ensembl chr 6:125,072,944...125,107,554 		JBrowse link
G Clec4a1 C-type lectin domain family 4, member a1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:122,898,807...122,911,578
Ensembl chr 6:122,898,807...122,911,578 		JBrowse link
G Clec4a3 C-type lectin domain family 4, member a3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:122,929,474...122,946,837
Ensembl chr 6:122,929,474...122,946,834 		JBrowse link
G Clec4b1 C-type lectin domain family 4, member b1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:123,026,921...123,048,514
Ensembl chr 6:123,026,921...123,048,514 		JBrowse link
G Clec4d C-type lectin domain family 4, member d ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:123,239,066...123,252,227
Ensembl chr 6:123,239,070...123,252,224 		JBrowse link
G Clec4e C-type lectin domain family 4, member e ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:123,258,748...123,266,830
Ensembl chr 6:123,258,748...123,266,829 		JBrowse link
G Clec4n C-type lectin domain family 4, member n ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:123,206,802...123,223,983
Ensembl chr 6:123,206,802...123,223,980 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:124,407,715...124,441,743
Ensembl chr 6:124,407,540...124,441,753 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,935,413...124,974,866
Ensembl chr 6:124,935,376...124,942,501 		JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:122,603,383...122,607,230
Ensembl chr 6:122,603,369...122,607,231 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:124,681,344...124,689,118
Ensembl chr 6:124,681,048...124,689,141 		JBrowse link
G Eno2 enolase 2, gamma neuronal ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,737,018...124,746,489
Ensembl chr 6:124,737,016...124,746,636 		JBrowse link
G Fam90a1b family with sequence similarity 90, member A1B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr  X:93,383,509...93,410,513
Ensembl chr  X:93,398,659...93,410,383
Ensembl chr  X:93,398,659...93,410,383 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:122,797,143...122,822,325
Ensembl chr 6:122,796,873...122,822,325 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:122,582,362...122,587,046
Ensembl chr 6:122,582,362...122,587,046 		JBrowse link
G Gnb3 guanine nucleotide binding protein (G protein), beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,811,203...124,817,238
Ensembl chr 6:124,811,203...124,817,238 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,835,407...124,840,900
Ensembl chr 6:124,835,407...124,840,946 		JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:124,716,146...124,718,032
Ensembl chr 6:124,716,146...124,718,337 		JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,122,167...125,138,746
Ensembl chr 6:125,122,204...125,138,745 		JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,016,811...125,026,228
Ensembl chr 6:125,016,723...125,026,228 		JBrowse link
G Lag3 lymphocyte-activation gene 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,881,322...124,888,668
Ensembl chr 6:124,881,324...124,888,668 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,044,808...125,063,092
Ensembl chr 6:125,044,883...125,059,435 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:124,639,887...124,681,142
Ensembl chr 6:124,639,990...124,681,381 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,746,832...124,757,411
Ensembl chr 6:124,746,826...124,756,690 		JBrowse link
G Ltbr lymphotoxin B receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,283,534...125,291,026
Ensembl chr 6:125,283,534...125,290,848 		JBrowse link
G Mfap5 microfibrillar associated protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:122,490,543...122,506,249
Ensembl chr 6:122,482,804...122,506,249 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:124,694,877...124,694,948
Ensembl chr 6:124,694,877...124,694,948 		JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:124,695,285...124,695,353
Ensembl chr 6:124,695,285...124,695,353 		JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,908,351...124,913,112
Ensembl chr 6:124,908,349...124,914,201 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,169,163...125,171,355
Ensembl chr 6:125,168,764...125,173,232 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:122,684,448...122,691,592
Ensembl chr 6:122,684,448...122,691,592 		JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,144,970...125,169,062
Ensembl chr 6:125,144,970...125,168,664 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:122,851,516...122,865,902
Ensembl chr 6:122,851,433...122,865,900 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,108,829...125,121,716
Ensembl chr 6:125,108,872...125,121,716 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,818,052...124,834,680
Ensembl chr 6:124,818,052...124,834,715 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B OMIM
ClinVar		 PMID:7719337 PMID:9536098 PMID:10462504 PMID:16199547 PMID:17532062 More... NCBI chr 6:124,373,774...124,392,878
Ensembl chr 6:124,373,775...124,392,026 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:124,689,252...124,693,908
Ensembl chr 6:124,689,299...124,693,913 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,973,683...124,980,059
Ensembl chr 6:124,973,657...124,980,059 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,890,638...124,894,909
Ensembl chr 6:124,890,644...124,897,066 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:124,697,670...124,715,672
Ensembl chr 6:124,697,670...124,715,677 		JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:122,424,255...122,464,021
Ensembl chr 6:122,424,255...122,475,720 		JBrowse link
G Scnn1a sodium channel, nonvoltage-gated 1 alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,286,657...125,321,906
Ensembl chr 6:125,297,622...125,321,906 		JBrowse link
G Slc2a3 solute carrier family 2 (facilitated glucose transporter), member 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 6:122,704,783...122,779,149
Ensembl chr 6:122,704,768...122,778,599 		JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,785,640...124,787,582
Ensembl chr 6:124,785,624...124,787,582 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,200,890...125,208,823
Ensembl chr 6:125,200,896...125,208,823 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,787,549...124,791,121
Ensembl chr 6:124,787,549...124,791,259 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 (isopeptidase T) ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,791,982...124,806,404
Ensembl chr 6:124,791,982...124,806,447 		JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:125,192,544...125,199,269
Ensembl chr 6:125,192,514...125,222,927 		JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr 6:124,985,980...125,014,833
Ensembl chr 6:124,986,108...125,014,833 		JBrowse link
Proopiomelanocortin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC108169208 Pomc promoter region ISO ClinVar Annotator: match by term: Obesity, adrenal insufficiency, and red hair due to POMC deficiency | ClinVar Annotator: match by term: Proopiomelanocortin deficiency ClinVar NCBI chr12:4,004,447...4,005,032 JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity, adrenal insufficiency, and red hair due to POMC deficiency | ClinVar Annotator: match by term: POMC-related condition | ClinVar Annotator: match by term: Proopiomelanocortin deficiency		 CTD
ClinVar
OMIM		 PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 More... NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
triple-A syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas achalasia, adrenocortical insufficiency, alacrimia ISO ClinVar Annotator: match by term: AAAS-related condition | ClinVar Annotator: match by term: Achalasia-alacrima syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 More... NCBI chr15:102,246,682...102,259,194
Ensembl chr15:102,246,687...102,259,206 		JBrowse link
G Myg1 melanocyte proliferating gene 1 ISO ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia ClinVar NCBI chr15:102,240,144...102,246,574
Ensembl chr15:102,240,144...102,246,574 		JBrowse link
X-linked adrenal hypoplasia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin, muscular dystrophy ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		JBrowse link
G Fthl17a ferritin, heavy polypeptide-like 17, member A ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:84,293,283...84,313,897
Ensembl chr  X:84,293,285...84,313,894 		JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:84,745,543...84,820,425
Ensembl chr  X:84,745,543...84,820,425 		JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:85,784,543...87,159,554
Ensembl chr  X:85,784,476...87,159,251 		JBrowse link
G LOC108444576 Nr0b1 5' regulatory region ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:85,230,648...85,235,410 JBrowse link
G Mageb4 MAGE family member B4 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:85,293,862...85,299,825
Ensembl chr  X:85,293,860...85,348,699 		JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO
IAGP		 ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
OMIM:300200		 OMIM
ClinVar
MouseDO		 PMID:6891556 PMID:7609262 PMID:7990953 PMID:7990958 PMID:8636263 More... NCBI chr  X:85,235,381...85,239,553
Ensembl chr  X:85,235,370...85,239,553 		JBrowse link
G Tab3 TGF-beta activated kinase 1/MAP3K7 binding protein 3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:84,617,466...84,678,075
Ensembl chr  X:84,617,628...84,678,075 		JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:84,820,445...84,935,105
Ensembl chr  X:84,913,960...84,935,105 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16269
    disease of anatomical entity 15860
      endocrine system disease 6547
        adrenal gland disease 280
          Adrenal Insufficiency 188
            Addison's disease + 7
            Adrenomyodystrophy 0
            Congenital Adrenal Hypoplasia with Absent Pituitary Luteinizing Hormone 0
            Glucocorticoid Deficiency 2 2
            Glucocorticoid Deficiency 3 0
            Glucocorticoid Deficiency 4 1
            Glucocorticoid Deficiency 5 2
            Hypoaldosteronism + 3
            IMAGe syndrome 1
            Proopiomelanocortin Deficiency 2
            Waterhouse-Friderichsen syndrome + 0
            X-linked adrenal hypoplasia congenita 9
            adrenal cortical hypofunction + 16
            adrenocorticotropic hormone deficiency 2
            adrenoleukodystrophy + 150
            congenital adrenal insufficiency 2
            glucocorticoid deficiency 1 3
            triple-A syndrome 2
paths to the root